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http://dx.doi.org/10.1136/jnnp-2020-325803 | DOI Listing |
Am J Med Genet A
September 2025
Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Most complex V subunits are nuclear encoded and so far, were not found in association with recognized Mendelian disorders. ATP5PO is a candidate gene for complex V mitochondrial disease. It encodes the oligomycin sensitivity-conferring protein (OSCP), an essential component of the "stalk" region that links the F1 and F0 domains of the ATP synthase complex.
View Article and Find Full Text PDFHeterozygous loss-of-function mutations are one established cause of isolated dystonia and hyposmia. Homozygous mutations have been reported in siblings with generalized dystonia and intellectual disability. encodes major [NM_001369387.
View Article and Find Full Text PDFCardiovasc Res
September 2025
Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Aims: Phospholamban (PLN) acts as an inhibitory regulator of calcium uptake in the sarco-/endoplasmic reticulum (SR) of cardiomyocytes. The pathogenic variant, PLN-R14del, leads to dilated and/or arrhythmogenic cardiomyopathy. Previous studies demonstrated that PLN-targeting antisense oligonucleotides (ASOs) can mitigate disease progression in mice.
View Article and Find Full Text PDFMicrobiology (Reading)
September 2025
Division of Oral Biosciences, Dublin Dental University Hospital, University of Dublin, Trinity College Dublin, Dublin, Ireland.
is an opportunistic fungal pathogen associated with superficial and systemic infections in humans. Azole antifungal resistance in is of clinical concern, and both oral and systemic infections can be difficult to treat due to the lack of alternative antifungal drugs. Expression of a hyperactive form of the transcription factor Tac1 is a major contributor to azole resistance in isolates resulting in the increased expression of the azole efflux pump Cdr1.
View Article and Find Full Text PDFAnn Rheum Dis
August 2025
Department of Pediatrics, Division of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Türkiye; Translational Medicine Laboratories, Pediatric Rheumatology Unit, Hacettepe University, Ankara, Türkiye. Electronic address:
Objectives: Familial Mediterranean fever (FMF) is traditionally viewed as an autosomal recessive autoinflammatory disorder. However, a significant subset of patients harbouring a single pathogenic MEFV mutation exhibit a clinical phenotype indistinguishable from that of homozygous patients. We aimed to compare the transcriptomic profiles of patients carrying a single pathogenic mutation who exhibit the classical FMF phenotype with those of healthy carriers (with 1 pathogenic mutation), as well as with homozygous or compound heterozygous patients (with 2 pathogenic mutations), to identify differential molecular signatures and potential diagnostic pathways.
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